AMPD1
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Official Full Name
adenosine monophosphate deaminase 1
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Overview
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. -
Synonyms
AMPD1; adenosine monophosphate deaminase 1; adenosine monophosphate deaminase 1 (isoform M); AMP deaminase 1; AMPD isoform M; MAD; MADA; skeletal muscle AMPD; AMPD; myoadenylate deaminase; adenosine monophosphate deaminase-1 (muscle);
- Recombinant Proteins
- Cell & Tissue Lysates
- Protein Pre-coupled Magnetic Beads
- Human
- Mouse
- Rat
- Zebrafish
- E.Coli or Yeast
- HEK293
- HEK293T
- HEK293T Cells
- In Vitro Cell Free System
- Mammalian Cell
- Mammalian cells
- Wheat Germ
- Flag
- GST
- His
- His (Fc)
- Avi
- Myc
- DDK
- Myc|DDK
- N/A
- Involved Pathway
- Protein Function
- Interacting Protein
AMPD1 involved in several pathways and played different roles in them. We selected most pathways AMPD1 participated on our site, such as Purine metabolism, Metabolic pathways, which may be useful for your reference. Also, other proteins which involved in the same pathway with AMPD1 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
Pathway Name | Pathway Related Protein |
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Purine metabolism | PNP5A;ENTPD2;PAPSS2A;NUDT16;PDE7A;PDE10A;UOX;POLR1E;PDE5AB |
Metabolic pathways | COX5B;SAT2;ALDH2.1;CYCSB;ATP6V1B1;ATP6V1B2;UGP2A;IDH2;PAH |
AMPD1 has several biochemical functions, for example, AMP deaminase activity, metal ion binding, myosin heavy chain binding. Some of the functions are cooperated with other proteins, some of the functions could acted by AMPD1 itself. We selected most functions AMPD1 had, and list some proteins which have the same functions with AMPD1. You can find most of the proteins on our site.
Function | Related Protein |
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AMP deaminase activity | AMPD2;AMPD1;AMPD3B;AMPD3 |
metal ion binding | ZDHHC13;IDO2;SLC8A1;TGM1;AGFG2;LHX2A;MAP3K13;TRIT1;ISG20 |
myosin heavy chain binding | MYL9;MYBPC3;MYL12B;MYL2;PDLIM2;AMPD1;CORO1A |
AMPD1 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with AMPD1 here. Most of them are supplied by our site. Hope this information will be useful for your research of AMPD1.
C1QTNF9; GABARAP; MAP1LC3B; GABARAPL1; MAP1LC3A
- Q&As
- Reviews
Q&As (16)
Ask a questionCurrently, there is no cure for AMPD1 protein deficiency. Treatment mainly focuses on managing symptoms and minimizing their impact on daily life. Lifestyle modifications, including avoiding triggers, dietary adjustments, and appropriate physical activity, are essential components of management.
AMPD1 protein deficiency is generally considered stable and non-progressive. While symptoms can fluctuate in severity and may worsen with certain triggers, the condition itself does not tend to worsen over time. However, individual experiences may vary, and it is important for individuals to have regular medical follow-ups to monitor their condition.
AMPD1 protein deficiency primarily affects skeletal muscle tissue due to its higher energy demands during exercise. However, there is evidence to suggest that this deficiency may have broader effects, such as impairing cardiac function. Further research is needed to fully understand the potential systemic impact of AMPD1 protein deficiency.
Currently, AMPD1 protein deficiency is not included in routine newborn screening panels. Diagnosis is typically made based on symptoms, genetic testing, and enzymatic activity analysis. However, as research progresses and our understanding of the condition improves, it is possible that it may be included in newborn screening programs in the future.
As of now, there is no cure for AMPD1 protein deficiency. However, ongoing research is being conducted to better understand the condition and explore potential treatment options. Management strategies and lifestyle modifications can help individuals with AMPD1 protein deficiency lead a relatively normal life and minimize symptoms.
While specific clinical trials for AMPD1 protein deficiency may be limited, ongoing research is being conducted to better understand the condition, improve diagnosis, and explore potential therapies. This research includes investigating gene therapy, enzyme replacement therapy, and pharmacological interventions aimed at addressing the underlying metabolic abnormalities associated with the disorder.
With proper management and lifestyle modifications, individuals with AMPD1 protein deficiency can lead relatively normal lives. Understanding and avoiding triggers that may worsen symptoms, such as intense exercise or high-protein diets, can help minimize complications. Regular monitoring and communication with healthcare providers are essential for effectively managing the condition.
The ability to engage in physical exercise may vary among individuals with AMPD1 protein deficiency. It is generally recommended to avoid intense and prolonged exercise, as it can trigger symptoms and increase the risk of muscle damage. Moderate and low-impact activities, such as walking or swimming, may be better tolerated. Each individual's exercise tolerance should be assessed on a case-by-case basis, and guidance from healthcare professionals is crucial.
The most common symptom of AMPD1 protein deficiency is exercise intolerance, which may manifest as muscle cramps, pain, stiffness, and weakness during or after physical exertion. Some individuals may also experience fatigue, myoglobinuria (the presence of myoglobin in the urine), and rhabdomyolysis (breakdown of muscle tissue). The severity of symptoms can vary among individuals.
The diagnosis of AMPD1 protein deficiency typically involves a combination of clinical evaluation, genetic testing, and biochemical analyses. Muscle biopsies may be performed to evaluate enzyme activity levels. Genetic testing can identify mutations in the AMPD1 gene, confirming the diagnosis.
AMPD1 protein deficiency is considered a rare condition. Its prevalence is estimated to be around 1 in 20,000 individuals globally. However, the frequency may vary across different populations.
Research studies and clinical trials related to AMPD1 protein deficiency may be ongoing, but it is essential to consult reputable sources, such as clinical trial registries or research institutes, to get the most up-to-date information. Participating in clinical trials can provide individuals with opportunities to contribute to the advancement of knowledge and potentially access new treatment options.
Yes, mutations in the AMPD1 gene are responsible for AMPD1 protein deficiency. The most common mutation is a substitution of glycine with arginine at position 202 (Gly202Arg). Other mutations have also been identified, and the specific mutation can influence the severity and clinical presentation of the condition.
Symptoms of AMPD1 protein deficiency can vary widely among affected individuals. Common symptoms include muscle pain, weakness, cramps, and fatigue, particularly during or after strenuous exercise. Some individuals may also experience exercise intolerance, muscle breakdown (rhabdomyolysis), or myoglobinuria (the presence of myoglobin in the urine).
Currently, there is no specific treatment for AMPD1 protein deficiency. Management primarily involves avoiding triggers that worsen symptoms, maintaining a balanced diet, and adopting strategies to minimize exercise-induced symptoms. In some cases, medication such as allopurinol or ribose supplements may be used, but their effectiveness can vary among individuals.
In most cases, AMPD1 protein deficiency is not life-threatening. However, severe episodes of muscle breakdown (rhabdomyolysis) can occur, leading to potential complications such as kidney damage. It is important for individuals with the condition to monitor their symptoms and seek medical attention if severe muscle pain, dark urine, or other concerning symptoms arise.
Customer Reviews (4)
Write a reviewTheir dedication to customer satisfaction has been instrumental in overcoming obstacles and achieving successful results in my experiments.
The manufacturer of AMPD1 protein has consistently provided outstanding technical support that has surpassed my expectations.
This protein demonstrates remarkable purity, stability, and specificity, ensuring utmost accuracy and reproducibility in my research endeavors.
I am delighted to express my complete satisfaction with the quality of AMPD1 protein, as it precisely suits my experimental requirements.
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